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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PLEK2 Gene

protein-coding   GIFtS: 51
GCID: GC14M067853

pleckstrin 2

 Explore 6 diseases affiliated with
PLEK2 via our new
 Human Malady Compendium 
Biological research products
for PLEK2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Pleckstrin 21 2
Pleckstrin 2 Homolog2
Pleckstrin-21

External Ids:    HGNC: 192381   Entrez Gene: 264992   Ensembl: ENSG000001005587   OMIM: 6080075   UniProtKB: Q9NYT03   

Export aliases for PLEK2 gene to outside databases

Previous GC identifers: GC14M065358 GC14M061647 GC14M065843 GC14M066923 GC14M048023


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: PLEK2_HUMAN, Q9NYT0
Function: May help orchestrate cytoskeletal arrangement. Contribute to lamellipodia formation

Gene Wiki entry for PLEK2


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PLEK2 gene promoter:
         c-Fos   Elk-1   NF-1   AP-1   JunB   ATF-2   Fra-1   FosB   Olf-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLEK2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PLEK2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLEK2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q23.3   Ensembl cytogenetic band:  14q23.3   HGNC cytogenetic band: 14q23.3

PLEK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLEK2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M067853:  view genomic region     (about GC identifiers)

Start:
67,853,700 bp from pter      End:
67,878,917 bp from pter
Size:
25,218 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PLEK2_HUMAN, Q9NYT0 (See protein sequence)
Recommended Name: Pleckstrin-2  
Size: 353 amino acids; 39971 Da
Subcellular location: Cell projection, lamellipodium membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton
1 PDB 3D structure from and Proteopedia for PLEK2:
1X1G (3D)    
Secondary accessions: Q96JT0

Explore the universe of human proteins at neXtProt for PLEK2: NX_Q9NYT0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NYT0

  • PLEK2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057529.1  
    ENSEMBL proteins: 
     ENSP00000216446   ENSP00000450533   ENSP00000451218   ENSP00000450892   ENSP00000451023  

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    Uscn Proteins for PLEK2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0031258lamellipodium membrane IEA--


    PLEK2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PLEK2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom
     IPR000591 DEP_dom

    Graphical View of Domain Structure for InterPro Entry Q9NYT0

    ProtoNet protein and cluster: Q9NYT0

    2 Blocks protein families:
    IPB000591 Pleckstrin putative G-protein interacting domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: PLEK2_HUMAN, Q9NYT0
    Similarity: Contains 1 DEP domain
    Similarity: Contains 2 PH domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PLEK2_HUMAN, Q9NYT0
    Function: May help orchestrate cytoskeletal arrangement. Contribute to lamellipodia formation

         Genatlas biochemistry entry for PLEK2:
    pleckstrin 2 mouse homolog,ubiquitously expressed

    miRNA
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    hsa-miR-515-5p hsa-miR-519e*
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005543phospholipid binding IEA--


    PLEK2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PLEK2:
     Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PLEK2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for PLEK2 (ENSP000002164464) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR1ENSP000003641334STRING: ENSP00000364133
    ACVR1ENSP000002636404STRING: ENSP00000263640
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030036actin cytoskeleton organization TAS10419454
    GO:0035556intracellular signal transduction IEA--


    PLEK2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PLEK2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PLEK2
    1 Novoseek chemical compound relationship for PLEK2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 53.2 10 17658464 (5), 17008542 (1)

    Search CenterWatch for drugs/clinical trials and news about PLEK2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PLEK2 gene: 
    NM_016445.1  

    Unigene Cluster for PLEK2:

    Pleckstrin 2
    Hs.170473  [show with all ESTs]
    Unigene Representative Sequence: BM913044
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216446(uc001xjh.1) ENST00000556532 ENST00000555803 ENST00000554395
    ENST00000553387 ENST00000557388

    miRNA
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    hsa-miR-515-5p hsa-miR-519e*
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF228603.1 BC001226.1 BC008056.2 

    11 DOTS entries:

    DT.113624  DT.92428851  DT.100775591  DT.120743232  DT.100021957  DT.120743185  DT.120743246  DT.97844865 
    DT.100811060  DT.95153775  DT.95164142 

    24/142 AceView cDNA sequences (see all 142):

    AI123234 AI693773 BE466310 AI471844 CR621991 CA314754 BM914903 CB121766 
    BM810913 BG326078 BM752808 BC008056 BM553391 AW139577 BM550895 BM561314 
    AI805043 AA757995 BM809704 BM772156 NM_016445 AA613815 AA776304 AF228603 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PLEK2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b
    SP1:                                                                  
    SP2:                    -     -     -                                 
    SP3:                                -                                 


    ECgene alternative splicing isoforms for PLEK2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PLEK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCATAATGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    PLEK2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal VesicleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)

    See PLEK2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLEK2

    SOURCE GeneReport for Unigene cluster: Hs.170473
        SABiosciences Expression via Pathway-Focused PCR Array including PLEK2: 
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PLEK2 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plek21 , 5 pleckstrin 21, 5 89.8(n)1
    95.18(a)1
      12 (35.51 cM)5
    272601  NM_013738.31  NP_038766.11 
     788886915 
    chicken
    (Gallus gallus)
    Aves PLEK21 pleckstrin 2 73.9(n)
    78(a)
      423278  XM_421197.3  XP_421197.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLEK26
    --
    73(a)
    1 ↔ 1
    GL343272.1(1181482-1195915)
    zebrafish
    (Danio rerio)
    Actinopterygii plek21 pleckstrin 2 60.95(n)
    59.43(a)
      567753  NM_001128739.1  NP_001122211.1 


    ENSEMBL Gene Tree for PLEK2 (if available)
    TreeFam Gene Tree for PLEK2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PLEK2 gene
    PLEK2  
    4 SIMAP similar genes for PLEK2 using alignment to 5 protein entries:     PLEK2_HUMAN (see all proteins):
    PLEK    AKT2    FAM109A    SWAP70

    PLEK2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/450 NCBI SNPs in PLEK2 are shown (see all 450    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1882912731,2
    --67853779(+) GTGCCC/TGAGGA 1 -- ut310--------
    rs1405011401,2
    C,--67853836(+) TGGCT-/GGGTTCT 1 -- ut310--------
    rs1807710121,2
    --67853892(+) CACTGC/TTGTTT 1 -- ut310--------
    rs768801861,2
    C,F,--67853940(+) AGCAGT/CACAAA 1 -- ut311Minor allele frequency- C:0.03EA 120
    rs10473501,2
    --67853972(-) GGAGTG/ATTAAG 1 -- ut312Minor allele frequency- A:0.03CSA NA 122
    rs1487170371,2
    C,F,--67854070(+) GCTTCA/GATCCA 2 I syn12Minor allele frequency- G:0.00NA EU 5873
    rs351406181,2
    C--67854079(+) CACTCG/AGCTCG 2 /A syn13Minor allele frequency- A:0.01NA 82
    rs1864545581,2
    C,--67854188(+) AAAAAC/GGGGGA 1 -- int10--------
    rs1445606551,2
    --67854266(+) GGACAA/GAAACA 1 -- int10--------
    rs1478536361,2
    --67854447(+) CATGCC/TATAGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for PLEK2 (67853700 - 67878917 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for PLEK2
         2 CNVs: 35260 8772

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PLEK2 for disorders           About GeneDecksing

    OMIM gene information: 608007    OMIM disorders: --

    6 diseases for PLEK2:    About MalaCards
    proctitis    pyuria    pyosalpinx    ulcerative proctitis
    clonorchiasis    melanoma

    2 diseases from the University of Copenhagen DISEASES database for PLEK2:
    Pyosalpinx     Clonorchiasis

    Export disorders for PLEK2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PLEK2 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with PLEK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pleckstrin-2 selectively interacts with phosphatidylinositol 3-kinase lipid products and regulates actin organization and cell spreading. (PubMed id 17658464)1, 3, 9 Hamaguchi N....Fukui Y. (2007)
    2. Pleckstrin homology domains and the cytoskeleton. (PubMed id 11911883)1, 3, 9 Lemmon M.A....Abrams C.S. (2002)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. PI3K regulates pleckstrin-2 in T-cell cytoskeletal reorganization. (PubMed id 17008542)1, 9 Bach T.L....Abrams C.S. (2007)
    5. Pleckstrin 2, a widely expressed paralog of pleckstrin involved in actin rearrangement. (PubMed id 10419454)1, 9 Hu M.H....Abrams C.S. (1999)
    6. Cloning, expression and chromosomal assignment of human pleckstrin 2. (PubMed id 15865208)1, 9 Inazu T....Miyamoto K. (2005)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Transcriptome profiling of whole blood cells identifi es PLEK2 and C1QB in human melanoma. (PubMed id 21698244)1 Luo Y....Fujita M. (2011)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26499 HGNC: 19238 AceView: PLEK2 Ensembl:ENSG00000100558 euGenes: HUgn26499
    ECgene: PLEK2 H-InvDB: PLEK2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PLEK2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PLEK2 gene:
    Search GeneIP for patents involving PLEK2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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